Variant Results

or

Results for "ZC3H11A"

Variant Events: 25

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

ZC3H11A

AU3765303

chr1:
203797851-203797851

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZC3H11A

1-0395-003

chr1:
203814235-203814236

AC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZC3H11A

AU4327303

chr1:
203787435-203787435

A

T

intronic

De novo

-

Trost2022 G

ZC3H11A

7-0292-004A

chr1:
203787435-203787435

A

T

intronic

De novo

-

Trost2022 G

ZC3H11A

REACH000668

chr1:
203789430-203789430

T

C

intronic

De novo

-

Trost2022 G

ZC3H11A

MT_21.3

chr1:
203787440-203787440

T

C

intronic

De novo

-

Trost2022 G

ZC3H11A

14581.p1

chr1:
203816493-203816493

G

T

exonic

De novo

nonsynonymous SNV

NM_014827

c.G1224T

p.E408D

20.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ZC3H11A

MSSNG00342-003

chr1:
203819036-203819036

C

T

exonic

De novo

synonymous SNV

NM_014827

c.C1821T

p.H607H

-

1.648E-5

Trost2022 G
Zhou2022 GE

ZC3H11A

2-1142-003

chr1:
203771681-203771682

GT

G

intronic

De novo

-

Trost2022 G

ZC3H11A

14620.p1

chr1:
203816724-203816724

G

A

exonic

synonymous SNV

NM_014827

c.G1455A

p.V485V

-

Zhou2022 GE

ZC3H11A

08C74480

chr1:
203799294-203799294

G

A

exonic

De novo

synonymous SNV

NM_014827

c.G663A

p.K221K

-

Fu2022 E

ZC3H11A

10-1155-004

chr1:
203787435-203787435

A

T

intronic

De novo

-

Trost2022 G

ZC3H11A

70524

chr1:
203816493-203816493

G

T

exonic

De novo

nonsynonymous SNV

NM_014827

c.G1224T

p.E408D

20.1

-

Fu2022 E
Trost2022 G

ZC3H11A

1-0887-003

chr1:
203787435-203787435

A

T

intronic

De novo

-

Trost2022 G

ZC3H11A

AU242A

chr1:
203816590-203816590

A

T

exonic

De novo

stopgain

NM_014827

c.A1321T

p.K441X

41.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZC3H11A

MSSNG00415-003

chr1:
203809760-203809760

A

C

intronic

De novo

-

Trost2022 G

ZC3H11A

1-0271-003

chr1:
203804197-203804197

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZC3H11A

2-0202-004

chr1:
203809295-203809295

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZC3H11A

1-0144-004

chr1:
203809184-203809184

A

CG

intronic

De novo

-

Trost2022 G

ZC3H11A

SP0066058

chr1:
203816448-203816448

A

G

exonic

De novo

synonymous SNV

NM_014827

c.A1179G

p.S393S

-

Trost2022 G

ZC3H11A

1-0395-004

chr1:
203814235-203814236

AC

A

intronic

De novo

-

Yuen2017 G

ZC3H11A

2-1306-003

chr1:
203810338-203810338

A

AT

intronic

De novo

-

Yuen2017 G

ZC3H11A

Lim2017:70524

chr1:
203816493-203816493

G

T

exonic

De novo

nonsynonymous SNV

NM_014827

c.G1224T

p.E408D

20.1

-

Lim2017 E

ZC3H11A

AU3997301

chr1:
203818458-203818458

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZC3H11A

1-0344-003

chr1:
203809025-203809025

G

A

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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